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Metadata
ID DOID:0110356
Name retinitis pigmentosa 18
Definition A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21.
https://www.ncbi.nlm.nih.gov/pubmed/11773002
Xrefs

ICD10CM:H35.5

MESH:C563320

MIM:601414

Synonyms

RP18 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a retinitis pigmentosa

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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